PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron

Morgan N. V., Westaway S. K., Morton J. E. V., Gregory A., Gissen P., Sonek S., ...More

NATURE GENETICS, vol.38, no.7, pp.752-754, 2006 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 38 Issue: 7
  • Publication Date: 2006
  • Doi Number: 10.1038/ng1826
  • Journal Name: NATURE GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.752-754
  • Bursa Uludag University Affiliated: No

Abstract

Neurodegenerative disorders with high brain iron include Parkinson disease, Alzheimer disease and several childhood genetic disorders categorized as neuroaxonal dystrophies. We mapped a locus for infantile neuroaxonal dystrophy ( INAD) and neurodegeneration with brain iron accumulation (NBIA) to chromosome 22q12-q13 and identified mutations in PLA2G6, encoding a calcium-independent group VI phospholipase A(2), in NBIA, INAD and the related Karak syndrome. This discovery implicates phospholipases in the pathogenesis of neurodegenerative disorders with iron dyshomeostasis.